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Supplementary Material (doc 236K)
Supplementary Material (doc 236K)

... Supplemental Text. Linking to PheGenI Records. To link to PheGenI, the base URL is http://www.ncbi.nlm.nih.gov/gap/PheGenI and is case sensitive. A link to a particular search requires a query string to be appended to the URL and this begins with a question mark (?) followed by name=value pairs use ...
Leukaemia Section Splenic  lymphoma  with  villous  lymphocytes (SLVL)
Leukaemia Section Splenic lymphoma with villous lymphocytes (SLVL)

... (11;14); BCL1 encodes the cyclin D1; role in the cell cycle control (G1 progression and G1/S transition); 5' BCL1 translocated on chromosome 14 near JH, resulting in promoter exchange; the immunoglobulin gene enhancer stimulates the expression of BCL1, and overexpression of BCL1 which accelerates pa ...
Characterization of the neurohypophysial hormone gene loci in
Characterization of the neurohypophysial hormone gene loci in

... oxytocin does not contain a copeptin (Figs 3 and 5). Thus, these precursors are different from the oxytocin-family precursor in teleost fishes which contains a copeptin moiety. However, the teleost fish oxytocin-family precursor does not contain an arginine residue between the neurophysin and the co ...
CDKN2 (p16/MTS1) Gene Deletion or CDK4
CDKN2 (p16/MTS1) Gene Deletion or CDK4

... The distance between the CDKN2 gene and its flanking loci, MTS2 and 1063. 7 has been estimated to be between 20 and 30 kilobases (7). In this study, breakpoints have been demonstrated within this rela tively short distance in a number of the tumors. Breakpoints occurred between the MTS2 locus and th ...
2) TF Gene-Disease Association Property Predictions
2) TF Gene-Disease Association Property Predictions

... Once the clusters are determined (using a strategy that involves manual thresholding by a human expert), the candidate genes are compared to the disease genes underlying the diseases in each cluster using the annotations from GOA. The score for a candidate gene for a disease cluster is the average, ...
Regulation of bolting and identification of the α
Regulation of bolting and identification of the α

... polarity of cells and in other aspects (Chan et al., 2011). It is necessary for plant cells to have different morphology to adapt to the environment and functional needs during the process of growth and development. These processes are closely associated with the microtubules. Kopczak et al. (1992) ...
Laws of Inheritance
Laws of Inheritance

... for each gene separately. Earlier, we examined the phenotypic proportions for a trihybrid cross using the forked-line method; now we will use the probability method to examine the genotypic proportions for a cross with even more genes. For a trihybrid cross, writing out the forked-line method is ted ...
Substitution Rates in a New Silene latifolia Sex
Substitution Rates in a New Silene latifolia Sex

... relaxed purifying selection in Y-linked genes, leading to the accumulation of nonsynonymous substitutions and genetic degeneration of the Y-linked genes. ...
Molecular Coat Colour Genetics
Molecular Coat Colour Genetics

... cancerous), contain premature stop codons and are non-functional (Horvath et al., 2001). Several of such transcripts are chimeric, incorporating exons from different ...
(Heterobasidion annosum) in
(Heterobasidion annosum) in

... molecular aspects of the host response to the pathogen infection have been relatively little examined. Typically, plant defence mechanisms comprise preformed and inducible physical and chemical barriers. Preformed physical barriers include thorns, bark and cuticular waxes, and chemical defences comp ...
Missense mutations in the PAX6 gene in aniridia.
Missense mutations in the PAX6 gene in aniridia.

... Three mutations occurred in the N-terminal subdomain of the paired domain, namely N17S, I29V, and R44Q, the first two of which were detected on the same allele of one patient. The other mutation (Q178H) was in the linking portion of the paired domain and homeodomain. ...
Human Sex Determination
Human Sex Determination

... sex reversal. Several CD patients have been described with the same mutation in SOX9 but developed either as an XY male or a sex-reversed XY female. Presumably, the variable penetrance of the syndrome results from differences in genetic background. An analysis of 30 XY females without SRY mutations ...
Proteins in Beverage: Approaches, Challenges
Proteins in Beverage: Approaches, Challenges

... protein that are available. Each source, and each form of protein within a particular source, has its own taste attributes, properties, benefits and challenges. This white paper will provide an overview of the physical and organoleptic properties of some of today’s most popular protein sources, and ...
Molecular bases of Down syndrome: differential gene
Molecular bases of Down syndrome: differential gene

... responsible for the overproduction of ROS have not been fully elucidated. The up-regulation of the SOD1 gene, located on human chr 21 (Torsdottir et al., 2001; Sinha, 2005), has been proposed as a potential culprit. However, an animal model of DS, the TS1Cje mouse, carrying a subset of triplicated h ...
09:45 PATO: An Ontology of Phenotypic Qualities
09:45 PATO: An Ontology of Phenotypic Qualities

...  Annotate 11 human disease genes, and their homologs  Develop search algorithm that utilizes the ontologies for comparison  Test search algorithm by asking, “given a set of phenotypic descriptions (EQ stmts), can we find…” alleles of the same gene homologs in different organisms members of a p ...
1b. Mendalian Genetics Definitions
1b. Mendalian Genetics Definitions

Laws of Inheritance
Laws of Inheritance

... for each gene separately. Earlier, we examined the phenotypic proportions for a trihybrid cross using the forked-line method; now we will use the probability method to examine the genotypic proportions for a cross with even more genes. For a trihybrid cross, writing out the forked-line method is ted ...
PART II Introducció 53
PART II Introducció 53

... citogenètiques a nivell del braç llarg del cromosoma 15 humà. Alteracions d’aquest tipus poden donar lloc al que s’anomenen patologies o transtorns d’origen genòmic (Lupski, 1998b; 2003; Stankiewicz & Lupski, 2002) (Taula 5). És a dir, malalties causades per la pèrdua, guany o disrupció de l’integri ...
Solid Tumour Section Lung: non-small cell carcinoma with inv(2)(p21p23)
Solid Tumour Section Lung: non-small cell carcinoma with inv(2)(p21p23)

... and EML4ALK(E2;add117A20): Intron 2 of EML4 is ligated to intron 19 of ALK, generating an EML4-ALK mRNA where exon 2 of the former is fused to exon 20 of the latter (also referred to as variant 5a). From the same gene rearrangement, alternative splicing of messages further generates an mRNA where ex ...
An interspecific plant hybrid shows novel changes in
An interspecific plant hybrid shows novel changes in

... (Valencia, CA) Qiaquick PCR purification kit, cloned them with pCR2.1-TOPO vector (Invitrogen), following the manufacturer’s protocol, and sequenced them using Big Dye Terminator v3.1 (Applied Biosystems) sequencing chemistry. We aligned the obtained sequences against the corresponding genomic DNA u ...
Antibiotic Resistance Markers in Genetically Modified (GM) Crops
Antibiotic Resistance Markers in Genetically Modified (GM) Crops

... that there were no significant food, feed or environmental concerns about the commercial release of this product. The French government approved the cultivation of the product under the condition of monitoring for increased insect-resistance and potential transfer of the ampicillin resistance gene t ...
Inferring gene-to-phenotype and gene-to
Inferring gene-to-phenotype and gene-to

... Results: Using this algorithm derived gene-to-phenotype and gene-to-disease annotations were created for 16,000 and 2100 mouse markers, respectively, starting from over 57,900 and 4800 genotypes with at least one phenotype and disease annotation, respectively. Conclusions: Implementation of this alg ...
CHALLENGES AND PROMISE OF CULTURE AND GENES 1
CHALLENGES AND PROMISE OF CULTURE AND GENES 1

... given place, yet the trait itself may still appear to increase the likelihood of successfully passing on one’s genes. Conversely, other normative traits—for instance, wanting just one child, if at all—may not seem so “adaptive.” Now it is possible that not wanting children is associated with other t ...
Parent organism - Office of the Gene Technology Regulator
Parent organism - Office of the Gene Technology Regulator

... RR Flex/Bollgard II® cotton was obtained by conventional crossing of the two GM varieties. The plants contain, in addition to the herbicide tolerance genes, two insecticidal genes cry1Ac and cry2Ab, derived from a common soil bacterium, Bacillus thuringiensis (Bt). The insecticidal genes encode prot ...
Information Encoding in Biological Molecules: DNA and
Information Encoding in Biological Molecules: DNA and

... Stephen Baird Apoptosis Research Centre Children’s Hospital of Eastern Ontario [email protected] ...
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Gene nomenclature

Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and full guidelines were issued in 1979 (Edinburgh Human Genome Meeting). Several other species-specific research communities (e.g., Drosophila, mouse) have adopted nomenclature standards, as well, and have published them on the relevant model organism websites and in scientific journals, including the Trends in Genetics Genetic Nomenclature Guide. Scientists familiar with a particular gene family may work together to revise the nomenclature for the entire set of genes when new information becomes available. For many genes and their corresponding proteins, an assortment of alternate names is in use across the scientific literature and public biological databases, posing a challenge to effective organization and exchange of biological information. Standardization of nomenclature thus tries to achieve the benefits of vocabulary control and bibliographic control, although adherence is voluntary. The advent of the information age has brought gene ontology, which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product attributes across all species.Gene nomenclature and protein nomenclature are not separate endeavors; they are aspects of the same whole. Any name or symbol used for a protein can potentially also be used for the gene that encodes it, and vice versa. But owing to the nature of how science has developed (with knowledge being uncovered bit by bit over decades), proteins and their corresponding genes have not always been discovered simultaneously (and not always physiologically understood when discovered), which is the largest reason why protein and gene names do not always match, or why scientists tend to favor one symbol or name for the protein and another for the gene. Another reason is that many of the mechanisms of life are the same or very similar across species, genera, orders, and phyla, so that a given protein may be produced in many kinds of organisms; and thus scientists naturally often use the same symbol and name for a given protein in one species (for example, mice) as in another species (for example, humans). Regarding the first duality (same symbol and name for gene or protein), the context usually makes the sense clear to scientific readers, and the nomenclatural systems also provide for some specificity by using italic for a symbol when the gene is meant and plain (roman) for when the protein is meant. Regarding the second duality (a given protein is endogenous in many kinds of organisms), the nomenclatural systems also provide for at least human-versus-nonhuman specificity by using different capitalization, although scientists often ignore this distinction, given that it is often biologically irrelevant.Also owing to the nature of how scientific knowledge has unfolded, proteins and their corresponding genes often have several names and symbols that are synonymous. Some of the earlier ones may be deprecated in favor of newer ones, although such deprecation is voluntary. Some older names and symbols live on simply because they have been widely used in the scientific literature (including before the newer ones were coined) and are well established among users.
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